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rs199422207

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422207(-;-)
Make rs199422207(-;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position47251345
GeneSTIL
is asnp
is mentioned by
dbSNPrs199422207
ebirs199422207
HLIrs199422207
Exacrs199422207
Varsomers199422207
Maprs199422207
PheGenIrs199422207
hapmaprs199422207
1000 genomesrs199422207
hgdprs199422207
ensemblrs199422207
gopubmedrs199422207
geneviewrs199422207
scholarrs199422207
googlers199422207
pharmgkbrs199422207
gwascentralrs199422207
openSNPrs199422207
23andMers199422207
23andMe allrs199422207
SNP Nexus

SNPshotrs199422207
SNPdbers199422207
MSV3drs199422207
GWAS Ctlgrs199422207
Max Magnitude0
ClinVar
Risk rs199422207(;)
Alt rs199422207(;)
Reference rs199422207(G;G)
Significance Pathogenic
Disease Primary autosomal recessive microcephaly 7
Variation info
Gene STIL
CLNDBN Primary autosomal recessive microcephaly 7
Reversed 1
HGVS NC_000001.10:g.47717017delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000013814.25,